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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ABCB8-TMSB4X (FusionGDB2 ID:221)

Fusion Gene Summary for ABCB8-TMSB4X

check button Fusion gene summary
Fusion gene informationFusion gene name: ABCB8-TMSB4X
Fusion gene ID: 221
HgeneTgene
Gene symbol

ABCB8

TMSB4X

Gene ID

11194

7114

Gene nameATP binding cassette subfamily B member 8thymosin beta 4 X-linked
SynonymsEST328128|M-ABC1|MABC1|MITOSURFX|PTMB4|TB4X|TMSB4
Cytomap

7q36.1

Xp22.2

Type of geneprotein-codingprotein-coding
Descriptionmitochondrial potassium channel ATP-binding subunitATP-binding cassette sub-family B member 8, mitochondrialATP-binding cassette, sub-family B (MDR/TAP), member 8mitochondrial ABC proteinmitochondrial ATP-binding cassette 1mitochondrial sulfonylurea-thymosin beta-4prothymosin beta-4t beta-4thymosin, beta 4, X chromosome
Modification date2020031320200313
UniProtAcc

Q9NUT2

.
Ensembl transtripts involved in fusion geneENST00000297504, ENST00000356058, 
ENST00000358849, ENST00000477092, 
ENST00000477719, ENST00000498578, 
ENST00000542328, ENST00000493338, 
ENST00000380633, ENST00000380635, 
ENST00000380636, ENST00000451311, 
Fusion gene scores* DoF score4 X 4 X 5=8010 X 7 X 4=280
# samples 510
** MAII scorelog2(5/80*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/280*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ABCB8 [Title/Abstract] AND TMSB4X [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointABCB8(150731916)-TMSB4X(12994365), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneABCB8

GO:0071805

potassium ion transmembrane transport

31435016

TgeneTMSB4X

GO:0042989

sequestering of actin monomers

1447300|1999398

TgeneTMSB4X

GO:0043536

positive regulation of blood vessel endothelial cell migration

21106936

TgeneTMSB4X

GO:1903026

negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding

21343177

TgeneTMSB4X

GO:1905273

positive regulation of proton-transporting ATP synthase activity, rotational mechanism

21106936

TgeneTMSB4X

GO:2000483

negative regulation of interleukin-8 secretion

21343177

TgeneTMSB4X

GO:2001028

positive regulation of endothelial cell chemotaxis

21106936

TgeneTMSB4X

GO:2001171

positive regulation of ATP biosynthetic process

21106936


check buttonFusion gene breakpoints across ABCB8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across TMSB4X (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BLCATCGA-FD-A5BT-01AABCB8chr7

150731916

+TMSB4XchrX

12994365

+


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Fusion Gene ORF analysis for ABCB8-TMSB4X

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-5UTRENST00000297504ENST00000380633ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000297504ENST00000380635ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000297504ENST00000380636ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000297504ENST00000451311ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000356058ENST00000380633ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000356058ENST00000380635ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000356058ENST00000380636ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000356058ENST00000451311ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000358849ENST00000380633ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000358849ENST00000380635ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000358849ENST00000380636ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000358849ENST00000451311ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000477092ENST00000380633ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000477092ENST00000380635ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000477092ENST00000380636ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000477092ENST00000451311ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000477719ENST00000380633ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000477719ENST00000380635ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000477719ENST00000380636ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000477719ENST00000451311ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000498578ENST00000380633ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000498578ENST00000380635ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000498578ENST00000380636ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000498578ENST00000451311ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000542328ENST00000380633ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000542328ENST00000380635ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000542328ENST00000380636ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
5CDS-5UTRENST00000542328ENST00000451311ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
intron-5UTRENST00000493338ENST00000380633ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
intron-5UTRENST00000493338ENST00000380635ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
intron-5UTRENST00000493338ENST00000380636ABCB8chr7

150731916

+TMSB4XchrX

12994365

+
intron-5UTRENST00000493338ENST00000451311ABCB8chr7

150731916

+TMSB4XchrX

12994365

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ABCB8-TMSB4X


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ABCB8chr7150731916+TMSB4XchrX12994364+0.0126232370.9873768
ABCB8chr7150731916+TMSB4XchrX12994364+0.0126232370.9873768

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for ABCB8-TMSB4X


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:150731916/:12994365)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ABCB8

Q9NUT2

.
FUNCTION: ATP-binding subunit of the mitochondrial potassium channel located in the mitochondrial inner membrane (PubMed:31435016). Together with CCDC51/MITOK, forms a protein complex localized in the mitochondria that mediates ATP-dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel) (PubMed:31435016). Plays a role in mitochondrial iron transport (PubMed:30623799). Required for maintenance of normal cardiac function, possibly by influencing mitochondrial iron export and regulating the maturation of cytosolic iron sulfur cluster-containing enzymes (By similarity). {ECO:0000250|UniProtKB:Q9CXJ4, ECO:0000269|PubMed:30623799, ECO:0000269|PubMed:31435016}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for ABCB8-TMSB4X


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for ABCB8-TMSB4X


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for ABCB8-TMSB4X


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ABCB8-TMSB4X


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource